Epidermolysis Bullosa Junctional, generalized intermediate - Specialized Centers

AUSTRIA
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER
Salzburger Landeskliniken
Molecular Dermatology/EB House Austria
Müllner Hauptstraße 48
5020 Salzburg
AUSTRIA
Prof. Dr. Johann Bauer
Lydia Stremnitzer
L.Stremnitzer@salk.at

Outpatient clinic for Epithelial Adhesion Disorders
Salzburger Landeskliniken/Molecular Dermatology
Diagnostic Laboratory
Müllner Hauptstraße 48
5020 Salzburg
AUSTRIA
Mag. Alfred Klausegger
A.Klausegger@salk.at

Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular diagnosis of Epithelial Adhesion Disorders
Salzburger Landeskliniken/Molecular Dermatology
Laboratory for Molecular Therapy
Müllner Hauptstraße 48
5020 Salzburg
AUSTRIA
Mag. Alfred Klausegger
A.Klausegger@salk.at

Project title: Collagen 17A1 Gene Correction Using Spliceosome Mediated RNA Trans-splicing (SMaRT™) Technology
Project title: Therapy of nonsense associated mutations in the LAMB3 gene by modulation of the eukaryotic splicing machinery via antisense-strategy and coupled in vitro luminescence read-out assays
Project title: 5` Spliceosome Mediated RNA Trans-Splicing gene-therapy for Plectin Deficient Epidermolysis Bullosa Patients
Project title: Screening for functional pre-trans-splicing molecules for gene therapy of EB-patients
CZECH REPUBLIC
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Pediatric Dermatology
Children's Hospital - Faculty Hospital Brno, Masaryk University Brno
Genodermatoses Center
Cernopolni 9
66263 Brno
CZECH REPUBLIC
Hana Buchova Assist. Prof., MD., Ph.D.
hbuchov@fnbrno.cz
Jana Kýrová, MD., Ing.
jana.kyrova@fnbrno.cz

EB Centre Czech Republic
www.eb-centru.cz

Centre of Molecular Biology and Gene Therapy (CMBGT)
Faculty Hospital Brno, Masaryk University Brno
Jihlavská 20
62500 Brno
CZECH REPUBLIC
Lenka Fajkusová, Assist. Prof., Ph.D.
lfajkusova@fnbrno.cz
Lenka Kopecková, Ph.D.
lenka.kopeckova@fnbrno.cz
Molecular diagnosis of EBC

Department of Pathology
St. Anne´s University Hospital, Masaryk University Brno
Pekarska 53
656 91 Brno
CZECH REPUBLIC
Karel Vesely MD, Ph.D.
karel.vesely@fnusa.cz
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

Centre of Molecular Biology and Gene Therapy (CMBGT)
Faculty Hospital Brno, Masaryk University Brno

IGA MH CR, project NT14585: Genodermatoses- molecular causes and diagnostics (2013-2015);
IGA MH CR, project NR9346: Introduction of complex diagnostics of epidermolysis bullosa congenita in the Czech Republic (2007-2009)

FRANCE
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Dermatology and Pediatric Dermatology, National reference centre for rare skin diseases
CHU de Bordeaux
Hôpital Pellegrin Enfants, Place Amélie Raba Léon
33076 Bordeaux cedex
FRANCE
Prof. Alain Taïeb
alain.taieb@chu-bordeaux.fr

Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

Service de Dermatologie
Hôpital Archet 2
BP 3079
06202 Nice cedex
FRANCE
Prof. Jean Paul Ortonne
Prof. Jean Philippe Lacour
Dr. Christine Chiaverini
lacour@unice.fr

chiaverini.c@chu-nice.fr
Outpatient clinic for Epithelial Adhesion Disorders

Necker hospital for sick children
Department of Genetics
Inserm U781, Tour Lavoisier
149 rue de Sèvres
75743 Paris cedex 15
FRANCE
Prof. Alain Hovnanian, M.D., Ph.D.
alain.hovnanian@inserm.fr

Outpatient clinic for Genodermatoses or rare diseases

MAGEC centre, Dermatology department
Necker Enfants Malades Hospital, Assistance Publique
149 rue de Sèvres
75015 Paris
FRANCE
Prof. Bodemer Christine
Christine.Bodemer@nck.aphp.fr

Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

INSERM U634
27 ave Valombrose
06107 Nice cedex 2
FRANCE
Dr. Guerrino Meneguzzi
Alexandra Charlesworth
Alexandra.Charlesworth@unice.fr

Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz

MAGEC centre, Dermatology department
Necker Enfants Malades Hospital, Assistance Publique,
149 rue de Sèvres
75015 Paris
FRANCE
Prof. Christine Bodemer
Christine.Bodemer@nck.aphp.fr
Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

INSERM U634
27 ave Valombrose
06107 Nice cedex 2
FRANCE
Dr. Guerrino Meneguzzi
Carole Langueneur
languene@unice.fr

Research activities on: Gene therapy of junctional epidermolysis bullosa

GERMANY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Dermatology, Venerology and Allergy
Charitéplatz 1
10117 Berlin
GERMANY
Prof. Ulrike Blume-Peytavi
Dr. Karola Stieler
karola.stieler@charite.de

Outpatient clinic for Epithelial Adhesion Disorders
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric Dermatology

Department of Dermatology
University Freiburg - Medical Center
Hauptstraße 7
79104 Freiburg i. Br.
GERMANY
Prof. Leena Bruckner-Tuderman
Daniela Kirstein
eb-zentrum@uniklinik-freiburg.de

Outpatient clinic for Epithelial Adhesion Disorders

Department of Dermatology
University of Cologne
Kerpener Strasse 62
50931 Köln
GERMANY
Dr. Iliana Tantcheva-Poor
iliana.tantcheva-poor@uk-koeln.de

Outpatient clinic for genodermatoses or rare diseases

Department of Dermatology
University Hospital
Von-Esmarch-Str. 58
48149 Muenster
GERMANY
PD Dr. Vinzenz Oji
Vinzenz.oji@ukmuenster.de

Outpatient clinic for Keratinization Disorders
and other genodermatoses

Center for Human Genetics Freiburg
Heinrich-von-Stephan-Str. 5
79100 Freiburg
GERMANY
Prof. Dr. Jürgen Kohlhase, MD
jkohlhase@humangenetik-freiburg.de

Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz

Department of Dermatology
University Freiburg - Medical Center
Hauptstraße 7
79104 Freiburg i. Br.
GERMANY
Prof. Leena Bruckner-Tuderman
Daniela Kirstein
eb-zentrum@uniklinik-freiburg.de

Histology/ Immunohistochemistry of Epithelial Adhesion disorders
Molecular analysis of Epidermolysis bullosa junctional, non-Herlitz

Universitätsklinikum Heidelberg
Institute of Pathology Heidelberg IPH
EM-Labor
INF 224
69120 Heidelberg
GERMANY
Dr. Ingrid Haußer-Siller
Ingrid.Hausser-Siller@med.uni-heidelberg.de

Electron microscopic investigation of skin biopsy

Children's Hospital
University of Erlangen-Nuernberg
Loschgestraße 15
91054 Erlangen
GERMANY
Holm Schneider, MD, Professor of Pediatrics
Head of the Division of Molecular Pediatrics
holm.schneider@uk-erlangen.de
Project title: Treatment of Herlitz junctional epidermolysis bullosa by transplantation of bone marrow and skin form the same donor
Project title: Evaluationof a prenatal gene therapy strategy for the treatment of junctional epidermolysis bullosa
Project title: Analysis of genotype-phneotype correlation in junctional epidermolysis bullosa

University Freiburg - Medical Center
Department of Dermatology
Hauptstraße 7
79104 Freiburg i. Br.
GERMANY
Prof. Leena Bruckner-Tuderman
sabine.acker-heinig@uniklinik-freiburg.de

Research activities on: Epidermolysis bullosa junctional, non-Herlitz

HUNGARY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Dept. of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
1085 Budapest
HUNGARY
Prof. Sarolta Kárpáti
Dr. Marta Medvecz
Dr. Krisztina Becker
Dr. Zsòfia Hatvani
karsar@bor.sote.hu
Outpatient clinic for Epithelial Adhesion Disorders

Department of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
1085 Budapest
HUNGARY
Prof. Sarolta Kárpáti
Dr. Marta Medvecz
Dr. Krisztina Becker
Dr. Zsòfia Hatvani
karsar@bor.sote.hu

Histology/Immunohistochemi stry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz

Department of Dermatology, Venerology and Dermatooncology
Semmelweis University
Mária str. 41
1085 Budapest
HUNGARY
Prof. Sarolta Kárpáti
Dr. Antal Blazsek
blazsek@bor.sote.hu

Project title: Genotype-phenotype correlation analysis in Hungarian cases of genodermatoses
Project title: Improving methodics of mutation analysis and prenatal diagnostics in genodermatoses

IRELAND
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Dermatology
Our Lady's Children's Hospital
Crumlin
Dublin 12
IRELAND
Prof. Alan Irvine
airvine.sec@olchc.ie

Outpatient clinic for Epithelial Adhesion Disorders

ITALY
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Ambulatorio Malattie Rare
U.O. di Dermatologia
Azienda Ospedaliera Spedali Civili di Brescia
Piazzale Spedali Civili 1
25123 Brescia
ITALY
Dr. Andrea Brezzi
Prof. Piergiacomo Calzavara Pinton
Prof. Marina Colombi
Dr. Marina Venturini
dermatologia@spedalicivili.
brescia.it

Centro per le malattie cutanee ereditarie
Istituto di Scienze Dermatologiche - Università di Milano
Via Pace 9
20122 Milano
ITALY
Dr. Gianluca Tadini
gtadinicmce@unimi.it

Outpatient clinic for Genodermatoses or rare diseases

Dipartimento di scienze dermatologiche
Via della Pergola, 58
50121 Florence
ITALY
Prof. Paolo Fabbri
fabbri@unifi.it
Outpatient clinic for Genodermatoses or rare diseases

Chirurgia Plastica e Ricostruttiva
Università degli Studi di Foggia
Viale Pinto
71100 Foggia
Italy
Prof. Aurelio Portincasa
Prof. Domenico Parisi
d.parisi@unifg.it

Outpatient surgical clinic for Epithelial Adhesion Disorders

U.O.C. di Dermatologia
Dipartimento di Medicina Pediatrica
IRCCS Ospedale Pediatrico Bambino Gesù
Piazza S. Onofrio 4
00165 Roma
ITALY
Dr May El Hachem (chief Unit of Dermatology)
Dr Andrea Diociaiuti
Dr Annalisa Ciasulli
may.elhachem@opbg.net
andrea.diociaiuti@opbg.net
Managing multidisciplinary approaches for Epidermolysis bullosa, Ichthyosis, Incontinentia Pigmenti and Vascular anomalies. Also for other several disorders, e.g. Ehlers-Danlos, NF, Ectodermal dysplasia etc

VII Division of Paediatric Dermatology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via dei Monti di Creta 104
00167 Rome
ITALY
Dr. Corrado Angelo
c.angelo@idi.it

Outpatient clinic for Genodermatoses or rare diseases

Department of Biomedical Sciences and Biotechnology, Division of Biology and Genetics
University of Brescia
Via Europa 11
25123 Brescia
ITALY
Dr. Andrea Brezzi
Prof. Piergiacomo Calzavara Pinton
Prof. Marina Colombi
Dr. Marina Venturini
colombi@med.unibs.it

Centro per le malattie cutanee ereditarie
Istituto di Scienze Dermatologiche - Università di Milano
Via Pace 9
20122 Milano
ITALY
Dr. Gianluca Tadini
gtadinicmce@unimi.it

Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

Laboratory of Molecular and Cell Biology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via Monti di Creta 104
00167 Rome
ITALY
Prof. Giovanna Zambruno
Dr. Daniele Castiglia
d.castiglia@idi.it

Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz

Laboratory of Molecular and Cell Biology
Istituto Dermopatico dell'Immacolata, IDI-IRCCS
Via Monti di Creta 104
00167 Rome
ITALY
Prof. Giovanna Zambruno
Dr. Daniele Castiglia
d.castiglia@idi.it

Research title: Molecular mechanisms underlying epithelial- mesenchimal adhesion disorders
Research title: Development of novel diagnostic protocols for genodermatoses

SWEDEN
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Dermatology - Genodermatosis Centre
Uppsala University Hospital
751 85 Uppsala
SWEDEN
Prof. Anders Vahlquist
Anders.Vahlquist@medsci.uu.se

Dr. Marie Virtanen
marie.virtanen@akademiska.se
Outpatient clinic for Genodermatoses or rare diseases

SWITZERLAND
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Service de Dermatologie et Vénéréologie
CHUV / FBM - UNIL
Hôpital de Beaumont
1011 Lausanne
SWITZERLAND
Prof. Daniel Hohl
Sophie Mercier
Sophie.Mercier@chuv.ch

Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

Laboratoire de biologie cutanée
Service de Dermatologie - CHUV/FBM
Hôpital de Beaumont, BT - 437
1011 Lausanne
SWITZERLAND
Prof. Daniel Hohl
Dr. Marcel Huber
marcel.huber@chuv.ch

Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz

THE NETHERLANDS
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Department of Dermatology
University Medical Centre Groningen
Hanzeplein 1
9700 RB Groningen
THE NETHERLANDS
Prof. Marcel F. Jonkman
m.f.jonkman@derm.umcg.nl

Outpatient clinic for Epithelial AdhesionDisorders
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

Section of Genome diagnostics
University Medical Centre Groningen
Hanzeplein 1
970 0RB Groningen
THE NETHERLANDS
Prof. Dr. R.C. Sinke
Dr. Henny Lemmink
H.H.Lemmink@umcg.nl
or secr-dna@medgen.umcg.nl
Molecular diagnosis of Epidermolysis bullosa junctional, non-Herlitz

Department of Dermatology
University Medical Centre Groningen
Hanzeplein 1
9700 RB Groningen
THE NETHERLANDS
Prof. Marcel F. Jonkman
m.f.jonkman@derm.umcg.nl

Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders

Dermatology
University Medical Centre Groningen
Hanzeplein 1
9700 RB Groningen
THE NETHERLANDS
Prof. Marcel F Jonkman
m.f.jonkman@derm.umcg.nl

Research activities on: Revertant cell therapy

UNITED KINGDOM
CLINICAL CENTERDIAGNOSTIC CENTERRESEARCH CENTER

Centre Cutaneous Research
Barts/London SMD/QMUL
4 Newark St
London E1 2AT
UNITED KINGDOM
Dr. Edel O'Toole
e.a.otoole@qmul.ac.uk

Outpatient clinic for Genodermatoses or rare diseases (for Epidermolysis bullosa simplex, Dowling-Meara, Koebner, Weber-Cockayne and with muscular dystrophy types)

Genetic Skin Disease Group
St John's Institute of Dermatology
St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH
UNITED KINGDOM
Dr. Jemima Mellerio
jemima.mellerio@kcl.ac.uk

Outpatient clinic for Epithelial Adhesion Disorders
Outpatient clinic for Genodermatoses or rare diseases
Outpatient clinic for Pediatric dermatology

Genetic Skin Disease Group Division of Genetics and Molecular Medicine
St John's Institute of Dermatology St Thomas' Hospital
Westminster Bridge Road
London SE1 7EH
UNITED KINGDOM
Prof. John McGrath
Trish Dopping-Hepenstal
trish.dopping-hepenstal@gsts.com

Histology/ Immunohistochemistry of Epithelial Adhesion Disorders
Electron microscopy of Epithelial Adhesion Disorders
Molecular analysis of Epidermolysis bullosa junctional, non-Herlitz

Genetic Skin Disease Group
St John's Institute of Dermatology - St Thomas' Hospital
Division of Genetics and Molecular Medicine
Westminster Bridge Road
London SE1 7EH
UNITED KINGDOM
Prof. John McGrath
john.mcgrath@kcl.ac.uk

Research activities on: Epidermolysis bullosa junctional, non-Herlitz